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1.
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Am J Hum Genet
; 107(2): 342-351, 2020 08 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32673564
2.
Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Connect Tissue Res
; 60(2): 146-154, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29732924
3.
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
Hum Mutat
; 39(10): 1344-1348, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30058754
4.
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
BMC Med Genet
; 18(1): 114, 2017 10 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-29037160
5.
From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.
Appl Immunohistochem Mol Morphol
; 31(10): 690-696, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37796154
6.
MGMT in glial carcinogenesis. Roles from prevention to treatment.
Eur J Cancer Prev
; 31(6): 568-576, 2022 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35671254
7.
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
Front Endocrinol (Lausanne)
; 8: 64, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28458651
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